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Updated: Jun 20, 2026
A Method to Study the C924T Polymorphism of the Thromboxane A2 Receptor Gene
Published on: April 1, 2019
Expression profiling of the AT2R mRNA in affected tissue from children with CAKUT
Aleksandra Stanković1, Maja Zivković, Mirjana Kostić
1Vinca Institute of Nuclear Sciences, Laboratory for Radiobiology and Molecular Genetics, 11001 Belgrade, Serbia. alexas@vinca.rs
Objectives:
Congenital anomalies of the kidney and urinary tract (CAKUT) are common causes of chronic renal failure in children. The angiotensin II receptor type 2 (AT2R) is one of proposed candidate genes for CAKUT, but the expression was never explored in humans. The aim was to establish the AT2R gene expression in human CAKUT concerning -1332A/G polymorphism, which might affect alternative splicing.
Design And Methods:
Forty-eight patients with CAKUT constitute the basis of this study. Genotyping for -1332A/G, RT-PCR for AT2R gene expression and confirmation sequencing were performed.
Results:
The expression of Ex 1/2/3 and Ex 1/3 transcript splice variants of the AT2R mRNA were detected in human CAKUT tissue. The pattern was observed independently of A to G transition.
Conclusions:
The expression of AT2R mRNA in human CAKUT was established for the first time and was not affected by -1332A/G polymorphism in children with CAKUT.
Insights
We established angiotensin II receptor type 2 (AT2R) gene expression in human congenital anomalies of the kidney and urinary tract (CAKUT). This expression was not influenced by the -1332A/G polymorphism in pediatric CAKUT patients.
Area of Science:
- Pediatric Nephrology
- Human Genetics
- Molecular Biology
Background:
- Congenital anomalies of the kidney and urinary tract (CAKUT) are a leading cause of pediatric chronic kidney disease.
- The angiotensin II receptor type 2 (AT2R) gene is a potential candidate gene for CAKUT.
- Previous studies have not investigated AT2R gene expression in human CAKUT cases.
Purpose of the Study:
- To determine the expression of the AT2R gene in human CAKUT.
- To investigate the association between AT2R gene expression and the -1332A/G polymorphism in CAKUT.
- To explore the potential impact of the -1332A/G polymorphism on AT2R alternative splicing in CAKUT.
Main Methods:
- Analysis of 48 pediatric patients diagnosed with CAKUT.
- Genotyping for the -1332A/G polymorphism in the AT2R gene.
- Reverse transcription-polymerase chain reaction (RT-PCR) to quantify AT2R mRNA expression levels.
- Confirmation sequencing to validate gene expression patterns.
Main Results:
- Detection of AT2R mRNA splice variants (Ex 1/2/3 and Ex 1/3) in human CAKUT tissues.
- AT2R gene expression patterns were observed irrespective of the -1332A/G polymorphism.
- No significant difference in AT2R expression was found between different genotypes of the -1332A/G polymorphism.
Conclusions:
- This study provides the first evidence of AT2R mRNA expression in human CAKUT.
- The -1332A/G polymorphism does not appear to influence AT2R gene expression in children with CAKUT.
- Further research may elucidate the role of AT2R in the pathogenesis of CAKUT.
